NM_000103.4(CYP19A1):c.1264-6del AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 14, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003667511.2

Allele description [Variation Report for NM_000103.4(CYP19A1):c.1264-6del]

NM_000103.4(CYP19A1):c.1264-6del

Genes:

MIR4713HG:MIR4713 host gene [Gene - HGNC]
CYP19A1:cytochrome P450 family 19 subfamily A member 1 [Gene - OMIM - HGNC]
PIRC66:piwi-interacting RNA cluster 66 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q21.2

Genomic location:

Preferred name:

NM_000103.4(CYP19A1):c.1264-6del

HGVS:

NC_000015.10:g.51211065del
NG_007982.1:g.132537del
NM_000103.4:c.1264-6delMANE SELECT
NM_001347248.1:c.1264-6del
NM_001347249.2:c.1264-6del
NM_001347250.2:c.1264-6del
NM_001347251.2:c.1264-6del
NM_001347252.2:c.1264-6del
NM_001347253.2:c.1264-6del
NM_001347254.2:c.1264-6del
NM_001347255.2:c.1264-6del
NM_001347256.2:c.1264-6del
NM_031226.3:c.1264-6del
NC_000015.9:g.51503259del
NC_000015.9:g.51503262del

Molecular consequence:

NM_000103.4:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001347248.1:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001347249.2:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001347250.2:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001347251.2:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001347252.2:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001347253.2:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001347254.2:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001347255.2:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_001347256.2:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]
NM_031226.3:c.1264-6del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004389910	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 14, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004389910

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 14, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004389910.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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